Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223428 | SCV000270812 | likely benign | not specified | 2015-04-07 | criteria provided, single submitter | clinical testing | c.3423+10C>A in intron 28 of RYR2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. |
Invitae | RCV002517500 | SCV003515195 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-09-27 | criteria provided, single submitter | clinical testing |